{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:56:39Z","timestamp":1791820599055,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/19\/44\/34424"],"award-info":[{"award-number":["FS\/19\/44\/34424"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Noninvasive Electrocardiol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 13\u2010year\u2010old female patient presenting with presyncope and palpitations. Her electrocardiogram revealed an abbreviation of the rate\u2010corrected QT interval with imaging showing significant left ventricular dysfunction. Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy\u2014primary carnitine deficiency (PCD) caused by a homozygous mutation in the <jats:italic>SLC22A5<\/jats:italic> gene, leading to an in\u2010frame deletion mutation (NP_003051.1:p.Phe23del) affecting the organic cation transporter 2 (OCTN2) protein. Following the treatment with oral carnitine supplementation, her QT interval returned to within the normal range with significant improvement in left ventricular function.<\/jats:p>","DOI":"10.1111\/anec.13077","type":"journal-article","created":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T04:45:37Z","timestamp":1693629937000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Left ventricular noncompaction cardiomyopathy and short <scp>QT<\/scp> syndrome due to primary carnitine deficiency"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9803-090X","authenticated-orcid":false,"given":"Oliver P.","family":"Hanington","sequence":"first","affiliation":[{"name":"Cardiovascular Research Laboratories, School of Physiology, Pharmacology and Neuroscience University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Bristol Heart Institute  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Germaine","family":"Pierre","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Sick Children  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Stuart","sequence":"additional","affiliation":[{"name":"Bristol Heart Institute  Bristol UK"},{"name":"Bristol Royal Hospital for Sick Children  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2055-6482","authenticated-orcid":false,"given":"Jules C.","family":"Hancox","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Laboratories, School of Physiology, Pharmacology and Neuroscience University of Bristol  Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/2022.03.20.485034"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.4070\/kcj.2013.43.12.785"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2019.05.014"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2010.09.048"},{"issue":"1","key":"e_1_2_11_6_1","first-page":"10","article-title":"Primary carnitine deficiency as a potential cause of short QT syndrome","volume":"2","author":"Hancox J. 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